UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114403924_114403926delinsTCG | CA1873825848 | WHRN | c.732_734delinsCGA (p.Asn244=) c.2388_2390delinsCGA (p.Asn796=) c.1361_1363delinsCGA n.2269_2271delinsCGA c.1239_1241delinsCGA (p.Asn413=) c.1335_1337delinsCGA (p.Asn445=) c.2385_2387delinsCGA (p.Asn795=) c.1725_1727delinsCGA (p.Asn575=) c.2421_2423delinsCGA (p.Asn807=) c.2418_2420delinsCGA (p.Asn806=) c.2295_2297delinsCGA (p.Asn765=) c.2178_2180delinsCGA (p.Asn726=) c.1098_1100delinsCGA (p.Asn366=) n.3325_3327delinsCGA n.3223_3225delinsCGA n.2636_2638delinsCGA n.2534_2536delinsCGA | |
| 9 | g.114403925_114403926del | CA466781892 | WHRN | c.732_733del (p.Asn244LysfsTer?) c.2388_2389del (p.Asn796LysfsTer?) c.1361_1362del n.2269_2270del c.1239_1240del (p.Asn413LysfsTer?) c.1335_1336del (p.Asn445LysfsTer?) c.2385_2386del (p.Asn795LysfsTer?) c.1725_1726del (p.Asn575LysfsTer?) c.2421_2422del (p.Asn807LysfsTer?) c.2418_2419del (p.Asn806LysfsTer?) c.2295_2296del (p.Asn765LysfsTer?) c.2178_2179del (p.Asn726LysfsTer?) c.1098_1099del (p.Asn366LysfsTer?) n.3325_3326del n.3223_3224del n.2636_2637del n.2534_2535del | ClinVar dbSNP |
| 9 | g.114403926G>A | CA198649102 | WHRN | c.732C>T (p.Asn244=) c.2388C>T (p.Asn796=) c.1361C>T n.2269C>T c.1239C>T (p.Asn413=) c.1335C>T (p.Asn445=) c.2385C>T (p.Asn795=) c.1725C>T (p.Asn575=) c.2421C>T (p.Asn807=) c.2418C>T (p.Asn806=) c.2295C>T (p.Asn765=) c.2178C>T (p.Asn726=) c.1098C>T (p.Asn366=) n.3325C>T n.3223C>T n.2636C>T n.2534C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403926G>C | CA5205652 | WHRN | c.732C>G (p.Asn244Lys) c.2388C>G (p.Asn796Lys) c.1361C>G n.2269C>G c.1239C>G (p.Asn413Lys) c.1335C>G (p.Asn445Lys) c.2385C>G (p.Asn795Lys) c.1725C>G (p.Asn575Lys) c.2421C>G (p.Asn807Lys) c.2418C>G (p.Asn806Lys) c.2295C>G (p.Asn765Lys) c.2178C>G (p.Asn726Lys) c.1098C>G (p.Asn366Lys) n.3325C>G n.3223C>G n.2636C>G n.2534C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.114403926G= | CA1873825850 | WHRN | c.732C= (p.Asn244=) c.2388C= (p.Asn796=) c.1361C= n.2269C= c.1239C= (p.Asn413=) c.1335C= (p.Asn445=) c.2385C= (p.Asn795=) c.1725C= (p.Asn575=) c.2421C= (p.Asn807=) c.2418C= (p.Asn806=) c.2295C= (p.Asn765=) c.2178C= (p.Asn726=) c.1098C= (p.Asn366=) n.3325C= n.3223C= n.2636C= n.2534C= | |
| 9 | g.114403926G>T | CA136916 | WHRN | c.732C>A (p.Asn244Lys) c.2388C>A (p.Asn796Lys) c.1361C>A n.2269C>A c.1239C>A (p.Asn413Lys) c.1335C>A (p.Asn445Lys) c.2385C>A (p.Asn795Lys) c.1725C>A (p.Asn575Lys) c.2421C>A (p.Asn807Lys) c.2418C>A (p.Asn806Lys) c.2295C>A (p.Asn765Lys) c.2178C>A (p.Asn726Lys) c.1098C>A (p.Asn366Lys) n.3325C>A n.3223C>A n.2636C>A n.2534C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.114403927T>A | CA374619545 | WHRN | c.731A>T (p.Asn244Ile) c.2387A>T (p.Asn796Ile) c.1360A>T n.2268A>T c.1238A>T (p.Asn413Ile) c.1334A>T (p.Asn445Ile) c.2384A>T (p.Asn795Ile) c.1724A>T (p.Asn575Ile) c.2420A>T (p.Asn807Ile) c.2417A>T (p.Asn806Ile) c.2294A>T (p.Asn765Ile) c.2177A>T (p.Asn726Ile) c.1097A>T (p.Asn366Ile) n.3324A>T n.3222A>T n.2635A>T n.2533A>T | gnomAD v4 |
| 9 | g.114403927T>C | CA374619547 | WHRN | c.731A>G (p.Asn244Ser) c.2387A>G (p.Asn796Ser) c.1360A>G n.2268A>G c.1238A>G (p.Asn413Ser) c.1334A>G (p.Asn445Ser) c.2384A>G (p.Asn795Ser) c.1724A>G (p.Asn575Ser) c.2420A>G (p.Asn807Ser) c.2417A>G (p.Asn806Ser) c.2294A>G (p.Asn765Ser) c.2177A>G (p.Asn726Ser) c.1097A>G (p.Asn366Ser) n.3324A>G n.3222A>G n.2635A>G n.2533A>G | |
| 9 | g.114403927T>G | CA374619548 | WHRN | c.731A>C (p.Asn244Thr) c.2387A>C (p.Asn796Thr) c.1360A>C n.2268A>C c.1238A>C (p.Asn413Thr) c.1334A>C (p.Asn445Thr) c.2384A>C (p.Asn795Thr) c.1724A>C (p.Asn575Thr) c.2420A>C (p.Asn807Thr) c.2417A>C (p.Asn806Thr) c.2294A>C (p.Asn765Thr) c.2177A>C (p.Asn726Thr) c.1097A>C (p.Asn366Thr) n.3324A>C n.3222A>C n.2635A>C n.2533A>C | |
| 9 | g.114403928T>A | CA374619550 | WHRN | c.730A>T (p.Asn244Tyr) c.2386A>T (p.Asn796Tyr) c.1359A>T n.2267A>T c.1237A>T (p.Asn413Tyr) c.1333A>T (p.Asn445Tyr) c.2383A>T (p.Asn795Tyr) c.1723A>T (p.Asn575Tyr) c.2419A>T (p.Asn807Tyr) c.2416A>T (p.Asn806Tyr) c.2293A>T (p.Asn765Tyr) c.2176A>T (p.Asn726Tyr) c.1096A>T (p.Asn366Tyr) n.3323A>T n.3221A>T n.2634A>T n.2532A>T | |
| 9 | g.114403928T>C | CA374619554 | WHRN | c.730A>G (p.Asn244Asp) c.2386A>G (p.Asn796Asp) c.1359A>G n.2267A>G c.1237A>G (p.Asn413Asp) c.1333A>G (p.Asn445Asp) c.2383A>G (p.Asn795Asp) c.1723A>G (p.Asn575Asp) c.2419A>G (p.Asn807Asp) c.2416A>G (p.Asn806Asp) c.2293A>G (p.Asn765Asp) c.2176A>G (p.Asn726Asp) c.1096A>G (p.Asn366Asp) n.3323A>G n.3221A>G n.2634A>G n.2532A>G | |
| 9 | g.114403928T>G | CA374619555 | WHRN | c.730A>C (p.Asn244His) c.2386A>C (p.Asn796His) c.1359A>C n.2267A>C c.1237A>C (p.Asn413His) c.1333A>C (p.Asn445His) c.2383A>C (p.Asn795His) c.1723A>C (p.Asn575His) c.2419A>C (p.Asn807His) c.2416A>C (p.Asn806His) c.2293A>C (p.Asn765His) c.2176A>C (p.Asn726His) c.1096A>C (p.Asn366His) n.3323A>C n.3221A>C n.2634A>C n.2532A>C | |
| 9 | g.114403929C>A | CA466781894 | WHRN | c.729G>T (p.Arg243=) c.2385G>T (p.Arg795=) c.1358G>T n.2266G>T c.1236G>T (p.Arg412=) c.1332G>T (p.Arg444=) c.2382G>T (p.Arg794=) c.1722G>T (p.Arg574=) c.2418G>T (p.Arg806=) c.2415G>T (p.Arg805=) c.2292G>T (p.Arg764=) c.2175G>T (p.Arg725=) c.1095G>T (p.Arg365=) n.3322G>T n.3220G>T n.2633G>T n.2531G>T | |
| 9 | g.114403929C>G | CA466781895 | WHRN | c.729G>C (p.Arg243=) c.2385G>C (p.Arg795=) c.1358G>C n.2266G>C c.1236G>C (p.Arg412=) c.1332G>C (p.Arg444=) c.2382G>C (p.Arg794=) c.1722G>C (p.Arg574=) c.2418G>C (p.Arg806=) c.2415G>C (p.Arg805=) c.2292G>C (p.Arg764=) c.2175G>C (p.Arg725=) c.1095G>C (p.Arg365=) n.3322G>C n.3220G>C n.2633G>C n.2531G>C | |
| 9 | g.114403929C>T | CA466781896 | WHRN | c.729G>A (p.Arg243=) c.2385G>A (p.Arg795=) c.1358G>A n.2266G>A c.1236G>A (p.Arg412=) c.1332G>A (p.Arg444=) c.2382G>A (p.Arg794=) c.1722G>A (p.Arg574=) c.2418G>A (p.Arg806=) c.2415G>A (p.Arg805=) c.2292G>A (p.Arg764=) c.2175G>A (p.Arg725=) c.1095G>A (p.Arg365=) n.3322G>A n.3220G>A n.2633G>A n.2531G>A | gnomAD v4 |
| 9 | g.114403930C>A | CA374619557 | WHRN | c.728G>T (p.Arg243Leu) c.2384G>T (p.Arg795Leu) c.1357G>T n.2265G>T c.1235G>T (p.Arg412Leu) c.1331G>T (p.Arg444Leu) c.2381G>T (p.Arg794Leu) c.1721G>T (p.Arg574Leu) c.2417G>T (p.Arg806Leu) c.2414G>T (p.Arg805Leu) c.2291G>T (p.Arg764Leu) c.2174G>T (p.Arg725Leu) c.1094G>T (p.Arg365Leu) n.3321G>T n.3219G>T n.2632G>T n.2530G>T | |
| 9 | g.114403930C= | CA1873825851 | WHRN | c.728G= (p.Arg243=) c.2384G= (p.Arg795=) c.1357G= n.2265G= c.1235G= (p.Arg412=) c.1331G= (p.Arg444=) c.2381G= (p.Arg794=) c.1721G= (p.Arg574=) c.2417G= (p.Arg806=) c.2414G= (p.Arg805=) c.2291G= (p.Arg764=) c.2174G= (p.Arg725=) c.1094G= (p.Arg365=) n.3321G= n.3219G= n.2632G= n.2530G= | |
| 9 | g.114403930C>G | CA374619559 | WHRN | c.728G>C (p.Arg243Pro) c.2384G>C (p.Arg795Pro) c.1357G>C n.2265G>C c.1235G>C (p.Arg412Pro) c.1331G>C (p.Arg444Pro) c.2381G>C (p.Arg794Pro) c.1721G>C (p.Arg574Pro) c.2417G>C (p.Arg806Pro) c.2414G>C (p.Arg805Pro) c.2291G>C (p.Arg764Pro) c.2174G>C (p.Arg725Pro) c.1094G>C (p.Arg365Pro) n.3321G>C n.3219G>C n.2632G>C n.2530G>C | |
| 9 | g.114403930C>T | CA5205653 | WHRN | c.728G>A (p.Arg243Gln) c.2384G>A (p.Arg795Gln) c.1357G>A n.2265G>A c.1235G>A (p.Arg412Gln) c.1331G>A (p.Arg444Gln) c.2381G>A (p.Arg794Gln) c.1721G>A (p.Arg574Gln) c.2417G>A (p.Arg806Gln) c.2414G>A (p.Arg805Gln) c.2291G>A (p.Arg764Gln) c.2174G>A (p.Arg725Gln) c.1094G>A (p.Arg365Gln) n.3321G>A n.3219G>A n.2632G>A n.2530G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403931G>A | CA5205654 | WHRN | c.727C>T (p.Arg243Trp) c.2383C>T (p.Arg795Trp) c.1356C>T n.2264C>T c.1234C>T (p.Arg412Trp) c.1330C>T (p.Arg444Trp) c.2380C>T (p.Arg794Trp) c.1720C>T (p.Arg574Trp) c.2416C>T (p.Arg806Trp) c.2413C>T (p.Arg805Trp) c.2290C>T (p.Arg764Trp) c.2173C>T (p.Arg725Trp) c.1093C>T (p.Arg365Trp) n.3320C>T n.3218C>T n.2631C>T n.2529C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403931G>C | CA374619564 | WHRN | c.727C>G (p.Arg243Gly) c.2383C>G (p.Arg795Gly) c.1356C>G n.2264C>G c.1234C>G (p.Arg412Gly) c.1330C>G (p.Arg444Gly) c.2380C>G (p.Arg794Gly) c.1720C>G (p.Arg574Gly) c.2416C>G (p.Arg806Gly) c.2413C>G (p.Arg805Gly) c.2290C>G (p.Arg764Gly) c.2173C>G (p.Arg725Gly) c.1093C>G (p.Arg365Gly) n.3320C>G n.3218C>G n.2631C>G n.2529C>G | dbSNP gnomAD v4 |
| 9 | g.114403931G= | CA1873825852 | WHRN | c.727C= (p.Arg243=) c.2383C= (p.Arg795=) c.1356C= n.2264C= c.1234C= (p.Arg412=) c.1330C= (p.Arg444=) c.2380C= (p.Arg794=) c.1720C= (p.Arg574=) c.2416C= (p.Arg806=) c.2413C= (p.Arg805=) c.2290C= (p.Arg764=) c.2173C= (p.Arg725=) c.1093C= (p.Arg365=) n.3320C= n.3218C= n.2631C= n.2529C= | |
| 9 | g.114403931G>T | CA466781897 | WHRN | c.727C>A (p.Arg243=) c.2383C>A (p.Arg795=) c.1356C>A n.2264C>A c.1234C>A (p.Arg412=) c.1330C>A (p.Arg444=) c.2380C>A (p.Arg794=) c.1720C>A (p.Arg574=) c.2416C>A (p.Arg806=) c.2413C>A (p.Arg805=) c.2290C>A (p.Arg764=) c.2173C>A (p.Arg725=) c.1093C>A (p.Arg365=) n.3320C>A n.3218C>A n.2631C>A n.2529C>A | gnomAD v4 |
| 9 | g.114403932A>C | CA466781898 | WHRN | c.726T>G (p.Pro242=) c.2382T>G (p.Pro794=) c.1355T>G n.2263T>G c.1233T>G (p.Pro411=) c.1329T>G (p.Pro443=) c.2379T>G (p.Pro793=) c.1719T>G (p.Pro573=) c.2415T>G (p.Pro805=) c.2412T>G (p.Pro804=) c.2289T>G (p.Pro763=) c.2172T>G (p.Pro724=) c.1092T>G (p.Pro364=) n.3319T>G n.3217T>G n.2630T>G n.2528T>G | |
| 9 | g.114403932A>G | CA466781899 | WHRN | c.726T>C (p.Pro242=) c.2382T>C (p.Pro794=) c.1355T>C n.2263T>C c.1233T>C (p.Pro411=) c.1329T>C (p.Pro443=) c.2379T>C (p.Pro793=) c.1719T>C (p.Pro573=) c.2415T>C (p.Pro805=) c.2412T>C (p.Pro804=) c.2289T>C (p.Pro763=) c.2172T>C (p.Pro724=) c.1092T>C (p.Pro364=) n.3319T>C n.3217T>C n.2630T>C n.2528T>C | |
| 9 | g.114403932A>T | CA466781900 | WHRN | c.726T>A (p.Pro242=) c.2382T>A (p.Pro794=) c.1355T>A n.2263T>A c.1233T>A (p.Pro411=) c.1329T>A (p.Pro443=) c.2379T>A (p.Pro793=) c.1719T>A (p.Pro573=) c.2415T>A (p.Pro805=) c.2412T>A (p.Pro804=) c.2289T>A (p.Pro763=) c.2172T>A (p.Pro724=) c.1092T>A (p.Pro364=) n.3319T>A n.3217T>A n.2630T>A n.2528T>A | |
| 9 | g.114403933G>A | CA10628835 | WHRN | c.725C>T (p.Pro242Leu) c.2381C>T (p.Pro794Leu) c.1354C>T n.2262C>T c.1232C>T (p.Pro411Leu) c.1328C>T (p.Pro443Leu) c.2378C>T (p.Pro793Leu) c.1718C>T (p.Pro573Leu) c.2414C>T (p.Pro805Leu) c.2411C>T (p.Pro804Leu) c.2288C>T (p.Pro763Leu) c.2171C>T (p.Pro724Leu) c.1091C>T (p.Pro364Leu) n.3318C>T n.3216C>T n.2629C>T n.2527C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403933G>C | CA374619567 | WHRN | c.725C>G (p.Pro242Arg) c.2381C>G (p.Pro794Arg) c.1354C>G n.2262C>G c.1232C>G (p.Pro411Arg) c.1328C>G (p.Pro443Arg) c.2378C>G (p.Pro793Arg) c.1718C>G (p.Pro573Arg) c.2414C>G (p.Pro805Arg) c.2411C>G (p.Pro804Arg) c.2288C>G (p.Pro763Arg) c.2171C>G (p.Pro724Arg) c.1091C>G (p.Pro364Arg) n.3318C>G n.3216C>G n.2629C>G n.2527C>G | |
| 9 | g.114403933G= | CA1873825853 | WHRN | c.725C= (p.Pro242=) c.2381C= (p.Pro794=) c.1354C= n.2262C= c.1232C= (p.Pro411=) c.1328C= (p.Pro443=) c.2378C= (p.Pro793=) c.1718C= (p.Pro573=) c.2414C= (p.Pro805=) c.2411C= (p.Pro804=) c.2288C= (p.Pro763=) c.2171C= (p.Pro724=) c.1091C= (p.Pro364=) n.3318C= n.3216C= n.2629C= n.2527C= | |
| 9 | g.114403933G>T | CA374619565 | WHRN | c.725C>A (p.Pro242His) c.2381C>A (p.Pro794His) c.1354C>A n.2262C>A c.1232C>A (p.Pro411His) c.1328C>A (p.Pro443His) c.2378C>A (p.Pro793His) c.1718C>A (p.Pro573His) c.2414C>A (p.Pro805His) c.2411C>A (p.Pro804His) c.2288C>A (p.Pro763His) c.2171C>A (p.Pro724His) c.1091C>A (p.Pro364His) n.3318C>A n.3216C>A n.2629C>A n.2527C>A | |
| 9 | g.114403934G>A | CA374619569 | WHRN | c.724C>T (p.Pro242Ser) c.2380C>T (p.Pro794Ser) c.1353C>T n.2261C>T c.1231C>T (p.Pro411Ser) c.1327C>T (p.Pro443Ser) c.2377C>T (p.Pro793Ser) c.1717C>T (p.Pro573Ser) c.2413C>T (p.Pro805Ser) c.2410C>T (p.Pro804Ser) c.2287C>T (p.Pro763Ser) c.2170C>T (p.Pro724Ser) c.1090C>T (p.Pro364Ser) n.3317C>T n.3215C>T n.2628C>T n.2526C>T | gnomAD v4 |
| 9 | g.114403934G>C | CA374619572 | WHRN | c.724C>G (p.Pro242Ala) c.2380C>G (p.Pro794Ala) c.1353C>G n.2261C>G c.1231C>G (p.Pro411Ala) c.1327C>G (p.Pro443Ala) c.2377C>G (p.Pro793Ala) c.1717C>G (p.Pro573Ala) c.2413C>G (p.Pro805Ala) c.2410C>G (p.Pro804Ala) c.2287C>G (p.Pro763Ala) c.2170C>G (p.Pro724Ala) c.1090C>G (p.Pro364Ala) n.3317C>G n.3215C>G n.2628C>G n.2526C>G | |
| 9 | g.114403934G>T | CA374619574 | WHRN | c.724C>A (p.Pro242Thr) c.2380C>A (p.Pro794Thr) c.1353C>A n.2261C>A c.1231C>A (p.Pro411Thr) c.1327C>A (p.Pro443Thr) c.2377C>A (p.Pro793Thr) c.1717C>A (p.Pro573Thr) c.2413C>A (p.Pro805Thr) c.2410C>A (p.Pro804Thr) c.2287C>A (p.Pro763Thr) c.2170C>A (p.Pro724Thr) c.1090C>A (p.Pro364Thr) n.3317C>A n.3215C>A n.2628C>A n.2526C>A | gnomAD v4 |
| 9 | g.114403935C>A | CA466781902 | WHRN | c.723G>T (p.Leu241=) c.2379G>T (p.Leu793=) c.1352G>T n.2260G>T c.1230G>T (p.Leu410=) c.1326G>T (p.Leu442=) c.2376G>T (p.Leu792=) c.1716G>T (p.Leu572=) c.2412G>T (p.Leu804=) c.2409G>T (p.Leu803=) c.2286G>T (p.Leu762=) c.2169G>T (p.Leu723=) c.1089G>T (p.Leu363=) n.3316G>T n.3214G>T n.2627G>T n.2525G>T | dbSNP |
| 9 | g.114403935C= | CA1873825854 | WHRN | c.723G= (p.Leu241=) c.2379G= (p.Leu793=) c.1352G= n.2260G= c.1230G= (p.Leu410=) c.1326G= (p.Leu442=) c.2376G= (p.Leu792=) c.1716G= (p.Leu572=) c.2412G= (p.Leu804=) c.2409G= (p.Leu803=) c.2286G= (p.Leu762=) c.2169G= (p.Leu723=) c.1089G= (p.Leu363=) n.3316G= n.3214G= n.2627G= n.2525G= | |
| 9 | g.114403935C>G | CA466781903 | WHRN | c.723G>C (p.Leu241=) c.2379G>C (p.Leu793=) c.1352G>C n.2260G>C c.1230G>C (p.Leu410=) c.1326G>C (p.Leu442=) c.2376G>C (p.Leu792=) c.1716G>C (p.Leu572=) c.2412G>C (p.Leu804=) c.2409G>C (p.Leu803=) c.2286G>C (p.Leu762=) c.2169G>C (p.Leu723=) c.1089G>C (p.Leu363=) n.3316G>C n.3214G>C n.2627G>C n.2525G>C | |
| 9 | g.114403935C>T | CA5205655 | WHRN | c.723G>A (p.Leu241=) c.2379G>A (p.Leu793=) c.1352G>A n.2260G>A c.1230G>A (p.Leu410=) c.1326G>A (p.Leu442=) c.2376G>A (p.Leu792=) c.1716G>A (p.Leu572=) c.2412G>A (p.Leu804=) c.2409G>A (p.Leu803=) c.2286G>A (p.Leu762=) c.2169G>A (p.Leu723=) c.1089G>A (p.Leu363=) n.3316G>A n.3214G>A n.2627G>A n.2525G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403936A>C | CA374619577 | WHRN | c.722T>G (p.Leu241Arg) c.2378T>G (p.Leu793Arg) c.1351T>G n.2259T>G c.1229T>G (p.Leu410Arg) c.1325T>G (p.Leu442Arg) c.2375T>G (p.Leu792Arg) c.1715T>G (p.Leu572Arg) c.2411T>G (p.Leu804Arg) c.2408T>G (p.Leu803Arg) c.2285T>G (p.Leu762Arg) c.2168T>G (p.Leu723Arg) c.1088T>G (p.Leu363Arg) n.3315T>G n.3213T>G n.2626T>G n.2524T>G | |
| 9 | g.114403936A>G | CA374619579 | WHRN | c.722T>C (p.Leu241Pro) c.2378T>C (p.Leu793Pro) c.1351T>C n.2259T>C c.1229T>C (p.Leu410Pro) c.1325T>C (p.Leu442Pro) c.2375T>C (p.Leu792Pro) c.1715T>C (p.Leu572Pro) c.2411T>C (p.Leu804Pro) c.2408T>C (p.Leu803Pro) c.2285T>C (p.Leu762Pro) c.2168T>C (p.Leu723Pro) c.1088T>C (p.Leu363Pro) n.3315T>C n.3213T>C n.2626T>C n.2524T>C | |
| 9 | g.114403936A>T | CA374619585 | WHRN | c.722T>A (p.Leu241Gln) c.2378T>A (p.Leu793Gln) c.1351T>A n.2259T>A c.1229T>A (p.Leu410Gln) c.1325T>A (p.Leu442Gln) c.2375T>A (p.Leu792Gln) c.1715T>A (p.Leu572Gln) c.2411T>A (p.Leu804Gln) c.2408T>A (p.Leu803Gln) c.2285T>A (p.Leu762Gln) c.2168T>A (p.Leu723Gln) c.1088T>A (p.Leu363Gln) n.3315T>A n.3213T>A n.2626T>A n.2524T>A | |
| 9 | g.114403937G>A | CA466781905 | WHRN | c.721C>T (p.Leu241=) c.2377C>T (p.Leu793=) c.1350C>T n.2258C>T c.1228C>T (p.Leu410=) c.1324C>T (p.Leu442=) c.2374C>T (p.Leu792=) c.1714C>T (p.Leu572=) c.2410C>T (p.Leu804=) c.2407C>T (p.Leu803=) c.2284C>T (p.Leu762=) c.2167C>T (p.Leu723=) c.1087C>T (p.Leu363=) n.3314C>T n.3212C>T n.2625C>T n.2523C>T | gnomAD v4 |
| 9 | g.114403937G>C | CA5205656 | WHRN | c.721C>G (p.Leu241Val) c.2377C>G (p.Leu793Val) c.1350C>G n.2258C>G c.1228C>G (p.Leu410Val) c.1324C>G (p.Leu442Val) c.2374C>G (p.Leu792Val) c.1714C>G (p.Leu572Val) c.2410C>G (p.Leu804Val) c.2407C>G (p.Leu803Val) c.2284C>G (p.Leu762Val) c.2167C>G (p.Leu723Val) c.1087C>G (p.Leu363Val) n.3314C>G n.3212C>G n.2625C>G n.2523C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403937G= | CA1873825855 | WHRN | c.721C= (p.Leu241=) c.2377C= (p.Leu793=) c.1350C= n.2258C= c.1228C= (p.Leu410=) c.1324C= (p.Leu442=) c.2374C= (p.Leu792=) c.1714C= (p.Leu572=) c.2410C= (p.Leu804=) c.2407C= (p.Leu803=) c.2284C= (p.Leu762=) c.2167C= (p.Leu723=) c.1087C= (p.Leu363=) n.3314C= n.3212C= n.2625C= n.2523C= | |
| 9 | g.114403937G>T | CA374619587 | WHRN | c.721C>A (p.Leu241Met) c.2377C>A (p.Leu793Met) c.1350C>A n.2258C>A c.1228C>A (p.Leu410Met) c.1324C>A (p.Leu442Met) c.2374C>A (p.Leu792Met) c.1714C>A (p.Leu572Met) c.2410C>A (p.Leu804Met) c.2407C>A (p.Leu803Met) c.2284C>A (p.Leu762Met) c.2167C>A (p.Leu723Met) c.1087C>A (p.Leu363Met) n.3314C>A n.3212C>A n.2625C>A n.2523C>A | gnomAD v4 |
| 9 | g.114403938C>A | CA374619588 | WHRN | c.720G>T (p.Glu240Asp) c.2376G>T (p.Glu792Asp) c.1349G>T n.2257G>T c.1227G>T (p.Glu409Asp) c.1323G>T (p.Glu441Asp) c.2373G>T (p.Glu791Asp) c.1713G>T (p.Glu571Asp) c.2409G>T (p.Glu803Asp) c.2406G>T (p.Glu802Asp) c.2283G>T (p.Glu761Asp) c.2166G>T (p.Glu722Asp) c.1086G>T (p.Glu362Asp) n.3313G>T n.3211G>T n.2624G>T n.2522G>T | |
| 9 | g.114403938C= | CA1873825856 | WHRN | c.720G= (p.Glu240=) c.2376G= (p.Glu792=) c.1349G= n.2257G= c.1227G= (p.Glu409=) c.1323G= (p.Glu441=) c.2373G= (p.Glu791=) c.1713G= (p.Glu571=) c.2409G= (p.Glu803=) c.2406G= (p.Glu802=) c.2283G= (p.Glu761=) c.2166G= (p.Glu722=) c.1086G= (p.Glu362=) n.3313G= n.3211G= n.2624G= n.2522G= | |
| 9 | g.114403938C>G | CA374619589 | WHRN | c.720G>C (p.Glu240Asp) c.2376G>C (p.Glu792Asp) c.1349G>C n.2257G>C c.1227G>C (p.Glu409Asp) c.1323G>C (p.Glu441Asp) c.2373G>C (p.Glu791Asp) c.1713G>C (p.Glu571Asp) c.2409G>C (p.Glu803Asp) c.2406G>C (p.Glu802Asp) c.2283G>C (p.Glu761Asp) c.2166G>C (p.Glu722Asp) c.1086G>C (p.Glu362Asp) n.3313G>C n.3211G>C n.2624G>C n.2522G>C | |
| 9 | g.114403938C>T | CA466781906 | WHRN | c.720G>A (p.Glu240=) c.2376G>A (p.Glu792=) c.1349G>A n.2257G>A c.1227G>A (p.Glu409=) c.1323G>A (p.Glu441=) c.2373G>A (p.Glu791=) c.1713G>A (p.Glu571=) c.2409G>A (p.Glu803=) c.2406G>A (p.Glu802=) c.2283G>A (p.Glu761=) c.2166G>A (p.Glu722=) c.1086G>A (p.Glu362=) n.3313G>A n.3211G>A n.2624G>A n.2522G>A | dbSNP gnomAD v4 |
| 9 | g.114403943_114403952del | CA2785655826 | WHRN | c.711_720del (p.Ser238CysfsTer27) c.2367_2376del (p.Ser790CysfsTer27) c.1340_1349del n.2248_2257del c.1218_1227del (p.Ser407CysfsTer27) c.1314_1323del (p.Ser439CysfsTer27) c.2364_2373del (p.Ser789CysfsTer27) c.1704_1713del (p.Ser569CysfsTer27) c.2400_2409del (p.Ser801CysfsTer27) c.2397_2406del (p.Ser800CysfsTer27) c.2274_2283del (p.Ser759CysfsTer27) c.2157_2166del (p.Ser720CysfsTer27) c.1077_1086del (p.Ser360CysfsTer27) n.3304_3313del n.3202_3211del n.2615_2624del n.2513_2522del | |
| 9 | g.114403939T>A | CA5205657 | WHRN | c.719A>T (p.Glu240Val) c.2375A>T (p.Glu792Val) c.1348A>T n.2256A>T c.1226A>T (p.Glu409Val) c.1322A>T (p.Glu441Val) c.2372A>T (p.Glu791Val) c.1712A>T (p.Glu571Val) c.2408A>T (p.Glu803Val) c.2405A>T (p.Glu802Val) c.2282A>T (p.Glu761Val) c.2165A>T (p.Glu722Val) c.1085A>T (p.Glu362Val) n.3312A>T n.3210A>T n.2623A>T n.2521A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |